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Summary
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
AROMATIC L-AMINO ACID DECARBOXYLASE DOPA DECARBOXYLASE DDC
608643
OMIM = Online Medalian Inheritance of Men
35708
7p12.2-p12.1
  • bromocriptine
  • L-Dopa
  • pergolide
  • pyridoxal-5-phosphate
  • tranylcypromine
  • Vitamin B6 (pyridoxine)
rare
autosomal recessive
mutation in the AADC gene
symptoms
Amino acid, spinal fluid
Amino acids, plasma
Amino acids, urine
cerebral atrophy
chorea or athetosis
constipation
developmental delay
diarrhea
diurnal fluctuation of symptom
dystonia
encephalopathy
eye movements, abnormal
feeding difficulties, poor feeding
hypersalivation
hypoglycemia
hypothermia
hypotonia
impaired visual acuity
infections (severe or recurrent)
irritability
lethargy, drowsiness, malaise or sleep disorder
mental retardation
motor retardation
myoclonus
oculogyric crisis
onset, infancy
Organic acid, spinal fluid
Organic acids, urine
pallor
psychomotor retardation
ptosis (drooping eyelid)
rigor
seizures
speech development, delayed, abnormal
sweating
temperature instability
tremor or twitching
laboratory finding
Aromatic L-amino acid decarboxylase 100.00decreased activityliver
Aromatic L-amino acid decarboxylase 100.00decreased activityplasma
Dopamine 0.000.00increasedcerebrospinal fluid
3-Methoxytyrosine 0.000.00increasedcerebrospinal fluid
5-Hydroxytryptophan 0.000.00increasedcerebrospinal fluid
S-Adenosylmethionine 0.000.00decreasedcerebrospinal fluid
5-Hydroxyindolacetic acid 120.00500.00decreasedcerebrospinal fluid
Homovanillic acid 100.00900.00decreasedcerebrospinal fluid
Dopamine 0.000.00increasedurine
Dopamine increasedplasma
3-Methoxytyrosine 0.000.00increasedurine
3-Methoxytyrosine increasedplasma
5-Hydroxytryptophan 0.000.00increasedurine
5-Hydroxytryptophan increasedplasma
MRI, brain, abnormalities -
Adrenaline decreasedplasma
Noradrenaline decreasedplasma
3-Methoxytyramine0.000.00 increasedurineno data
L-Dopa0.000.00 increasedurineno data
3-O-methyldopa0.000.00 increasedblood
Vanillic acid increasedurineall
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